Publications

Date Revised: October 2024

Thank you to all the families for participating in Simons Searchlight. Through your involvement, we aim to assist researchers and geneticists worldwide in understanding genetic disorders affecting you or your family.

The research conducted using Simons Searchlight data has resulted in numerous published papers. These papers undergo a peer-review process, where other scientists assess and validate the research before publication in scientific journals. Additionally, some findings are shared via preprints, allowing rapid dissemination of information to the scientific community.

Many of the publications feature the name “Simons Variation in Individuals Project” (SimonsVIP), which was the original name of our research program, now known as Simons Searchlight.

The listed articles are organized chronologically, from oldest to newest. You can explore publications by specific genetic conditions using the categories below.

As of October 2024, Simons Searchlight has contributed to 108 publications and preprints, and we will continue to summarize new publications.

For accessibility, the Simons Foundation encourages researchers to make their publications open access. If you cannot access a journal article, we recommend reaching out to the last author listed on the paper to request a copy.

Understanding Publication Reference Titles:

-The article title is followed by publication details, including where and when it was published.
– If there are more than three authors, we use “et al.” to represent additional contributors.
– Journals are referenced using shorthand names.

Disclaimer: Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication. In contrast, all other articles listed here have undergone review by fellow researchers to ensure quality and accuracy. While posting on medRxiv or bioRxiv allows researchers to share findings quickly, the final published results may differ after undergoing formal peer review for journal publication.

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Genetic Condition
Year of Publication
108 Publications
Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal model
  • Mental health conditions, such as schizophrenia or anxiety, can be inherited, and researchers have been working to understand what factors may be inherited. Show More
  • The 16p11.2 deletion and duplication have been linked to neuropsychiatric conditions.
  • The researchers used 16p11.2 deletion and duplication induced pluripotent stem cells (iPSCs) from Simons Searchlight. iPSCs are a special type of cells that can be turned into other body cells, making it easier to study parts of the body that are difficult to get samples of, such as brain cells.
  • These iPSCs were turned into different brain cells to learn what type of genes were turned on or off that might lead to mental health conditions.
  • The researchers found that genes in the 16p11.2 region, and outside of this region, were affected in the lab-made brain cells. They used 16p11.2 deletion and duplication mouse models to see if mice have the same genes turned on or off.
  • The researchers tested the genes that had the biggest change in fish models to see if they affected brain development. They suggested that the PCSK9 gene, which stands for proprotein convertase subtilisin/kexin type 9, could affect head size, brain development, and body size in people with a 16p11.2 copy number variant.
  • The researchers also found that on the DNA outside of the 16p11.2 region, there was increased methylation. This means that the DNA was marked to be turned off.Show Less
bioRxiv Preprint, (2020)
Ward et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2020

Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice
  • Most research on brain cell development in people with a 16p11.2 deletion has studied how the cells grow and develop, but has not looked at how the supporting blood vessels are affected and contribute to brain features. Show More
  • The researchers studied 16p11.2 deletion mice to understand how the blood vessels develop in their brains. To make the learnings comparable to humans, they also used induced pluripotent stem cells (iPSCs) from people in Simons Searchlight with a 16p11.2 deletion. iPSCs are a special type of cells that can be turned into other body cells, making it easier to study parts of the body that are difficult to get samples of, such as brain cells.
  • The researchers found that the inner lining of blood vessels, called the endothelial layer, was abnormal in mice with a 16p11.2 deletion. They also found that genes in the 16p11.2 region help to regulate blood vessel development, but when deleted, they are not present to promote effective blood supply to regions of the brain.
  • They also showed that male mice with a 16p11.2 deletion had behavioral issues, such as irregular sleep-wake cycle, but both male and female mice had abnormal blood vessel development.
  • The researchers suggested that what they saw in the 16p11.2 deletion mice was similar to what they saw in the 16p11.2 deletion human brain cells, but that they need to do more work to confirm this finding.Show Less
Nat Neurosci 23, 1090-1101 (2020)
Ouellette et al.
Full Article

16p11.2 deletion
2020

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers
  • To study what environmental factors could lead to the differences in people with a 16p11.2 deletion or duplication, researchers studied Simons Searchlight participants. They looked at prenatal and postnatal factors that could affect people’s medical symptoms. For example, some people with a 16p11.2 deletion receive a diagnosis of autism while others do not. Show More
  • The researchers found that in participants with a 16p11.2 deletion, there was an increased number of perinatal factors, and genetic changes outside of the 16p11.2 region are linked to a person having autism or social defects. Examples of perinatal factors: being breech, low birth weight, low apgar score, and respiratory distress.
  • In participants with a 16p11.2 duplication, the researchers found that an increased number of genetic changes outside of the 16p11.2 region and being male were linked to an increased chance of having autism.
  • The researchers also studied the effects of environmental factors on verbal IQ or non-verbal IQ, repetitive behaviors, and the ability to adapt to different situations. Being female lowered the autism symptomatology in participants with a deletion or duplication, but did not have a large effect on IQ.
  • The researchers suggested that more work needs to be done to understand other environmental factors.Show Less
Autism Res 13, 1300-1310 (2020)
Hudac et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2020

Language characterization in 16p11.2 deletion and duplication syndromes
  • To understand the pattern of spoken language and understanding language in people with a 16p11.2 deletion or duplication, researchers performed in-person tests on Simons Searchlight participants. There were 110 people with a deletion and 58 people with a duplication included in this study. Participants were between ages 2 and 23 years old.Show More
  • Cognitive delays have been linked to having a lower ability to communicate in both deletion and duplication carriers. In this study, there was little effect of having an autism diagnosis on language ability. This suggests that the language issues in verbal people are linked to the 16p11.2 deletion or duplication in the presence or absence of autism.
  • Language issues in participants with a 16p11.2 deletion were more severe than in participants with a duplication. This included understanding the relationship between words, word meanings, and word context.
  • The researchers suggested that some language issues, such as commenting on one’s own experiences, or reporting main ideas from a story, may not be identified in a doctor’s clinic because if a person does not get an autism diagnosis, they may not be assessed for these different language differences.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI). Show Less
Am J Med Genet B Neuropsychiatr Genet 183, 380-391 (2020)
Kim et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2020

Abnormal auditory mismatch fields in children and adolescents with 16p11.2 deletion and 16p11.2 duplication
  • These researchers used magnetoencephalography (MEG) to detect brain activity and understand how people with 16p11.2 deletion or duplication process hearing sounds.Show More
  • Responses to sound were studied using MEG in 35 children with 16p11.2 deletions, 21 children with 16p11.2 duplications, and 55 children with no genetic changes. All children were Simons Searchlight participants.
  • The researchers found that children with a 16p11.2 deletion and duplication experienced a delay in processing sound. Children with a deletion or duplication had similar delays that were linked to having language impairment and cognitive impairment.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Biol Psychiatry Cogn Neurosci Neuroimaging 5, 942-950 (2020)
Matsuzaki et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2020

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia
  • These researchers used resting-state, functional magnetic resonance imaging (rs-fMRI) to test how regions of the brain interact with each other. rs-fMRI tracks changes in the level of oxygen in the blood as a measure of brain activity across brain areas when the person is resting.Show More
  • The researchers wanted to learn if there are differences in brain connectivity patterns in people with copy number variants (CNVs) and autism, seizures, or ADHD. They studied 101 people with a 16p11.2 or 22q11.2 deletion or duplication, 755 people with autism, seizures, or ADHD, and 1,072 people with no genetic condition. Simons Searchlight participants with a 16p11.2 CNV were included in this study.
  • The researchers found that the brain connectivity patterns of participants with a 16p11.2 or 22q11.2 deletion or duplication were similar to the patterns of participants with autism and seizures, but not to the patterns of participants with ADHD.
  • Participants with a 16p11.2 or 22q11.2 deletion or duplication, autism, or seizures had an increase in brain connections in particular regions of the brain. This increase happened in an area located between two regions of the brain: the region that is important for sleep, wakefulness, consciousness, learning, and memory and the sensory, motor, hearing, and vision networks.
  • These similarities in the brain among participants with gene deletions, gene duplications, and neurological disorders suggest that there might be a common pathway for the development of these conditions.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Nat Commun 11, 5272 (2020)
Moreau et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2020

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development
  • This paper has a summary image of the clinical differences and similarities in people who have a 16p11.2 deletion or duplication (see image below). The researchers used information from many of the papers summarized on this publication page. Show More
  • The researchers studied what genes are turned on in induced pluripotent stem cells (iPSCs) as they turn into brain cells. iPSCs were from Simons Searchlight participants with a 16p11.2 deletion or duplication.
  • iPSCs are a special type of cells that can be turned into other body cells, making it easier to study parts of the body that are difficult to study, such as brain cells.
  • The researchers found that 107 genes had the biggest changes in the cells, they were turned on or off in the brain cells of participants with a 16p11.2 deletion. They grouped the genes into the areas that are important for development, including nerve cell growth, cell communication, and nerve cell life cycle. Fifteen of the genes were linked to neurological conditions and nine were linked to autism. They found that 69 genes were turned on in participants who had high body mass index (BMI), which is a measure of body fat based on height and weight.
  • The researchers did not receive enough samples from people with a 16p11.2 duplication, so conclusions could not be made about this genetic change.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Elife 9, e58178 (2020)
Roth et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2020